Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CLCNKB 1188 broad.mit.edu 37 1 16380141 16380141 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:16380141C>T uc001axw.3 + 16 1710 c.1630C>T c.(1630-1632)CGC>TGC p.R544C FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R544C|CLCNKB_uc001axy.3_Missense_Mutation_p.R375C NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 544 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CAGTTCCCACCGCGTGAGGGT 0.622 NA 3 67 0 0 0 0 CYP4A11 1579 broad.mit.edu 37 1 47398701 47398701 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:47398701G>A uc001cqp.3 - 10 1292 c.1241C>T c.(1240-1242)TCC>TTC p.S414F CYP4A11_uc001cqq.2_Missense_Mutation_p.S414F NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 414 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GCCATAAATGGAGAGGAGGAC 0.507 NA 84 357 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66064395 66064395 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:66064395G>A uc001dci.2 + 8 1104 c.902G>A c.(901-903)GGG>GAG p.G301E LEPR_uc001dcg.2_Missense_Mutation_p.G301E|LEPR_uc001dch.2_Missense_Mutation_p.G301E|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G301E|LEPR_uc001dck.2_Missense_Mutation_p.G301E NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 301 Extracellular (Potential).|Fibronectin type-III 1. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATACTTCCTGGGTCTTCGTAT 0.413 NA 17 48 0 0 0 0 IL12RB2 3595 broad.mit.edu 37 1 67793933 67793933 + Missense_Mutation SNP A A C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:67793933A>C uc001ddu.2 + 5 1170 c.530A>C c.(529-531)TAT>TCT p.Y177S IL12RB2_uc010oqi.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqj.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqm.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 177 Extracellular (Potential).|Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 AAAGACATTTATTGTGACTAT 0.398 NA 56 70 0 0 0 0 MSH4 4438 broad.mit.edu 37 1 76272747 76272747 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:76272747A>G uc001dhd.1 + 3 550 c.509A>G c.(508-510)GAA>GGA p.E170G NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 170 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 GCCAGAGGTGAAATAGGAATG 0.363 NA MMR 19 52 0 0 0 0 LPHN2 23266 broad.mit.edu 37 1 82415915 82415915 + Missense_Mutation SNP T T G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:82415915T>G uc001dit.3 + 7 1422 c.1241T>G c.(1240-1242)TTC>TGC p.F414C LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F414C|LPHN2_uc001div.2_Missense_Mutation_p.F414C|LPHN2_uc009wcd.2_Missense_Mutation_p.F414C|LPHN2_uc001diw.2_5'UTR NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 414 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCTGAGCTGTTCAAAACCATA 0.428 NA 43 135 0 0 0 0 LPHN2 23266 broad.mit.edu 37 1 82416120 82416120 + Silent SNP A A T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:82416120A>T uc001dit.3 + 7 1627 c.1446A>T c.(1444-1446)ACA>ACT p.T482T LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.T482T|LPHN2_uc001div.2_Silent_p.T482T|LPHN2_uc009wcd.2_Silent_p.T482T|LPHN2_uc001diw.2_Silent_p.T53T NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 482 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GGCCTCAGACACAAAGGGGAA 0.398 NA 11 36 0 0 0 0 SPRR1A 6698 broad.mit.edu 37 1 152957935 152957935 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:152957935G>A uc009wnu.1 + 2 307 c.229G>A c.(229-231)GTC>ATC p.V77I SPRR1A_uc001faw.2_Missense_Mutation_p.V77I NM_005987 NP_005978 P35321 SPR1A_HUMAN small proline-rich protein 1A 77 6.|6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity 0 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCCTTCAACGGTCACTCCAGC 0.617 NA 39 87 0 0 0 0 CD1A 909 broad.mit.edu 37 1 158224916 158224916 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:158224916C>G uc001frt.2 + 2 634 c.101C>G c.(100-102)TCC>TGC p.S34C NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 34 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TGGATCGCATCCTTTTACAAC 0.478 NA 23 122 0 0 0 0 OR6N1 128372 broad.mit.edu 37 1 158735835 158735835 + Missense_Mutation SNP A A C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:158735835A>C uc010piq.1 - 1 638 c.638T>G c.(637-639)CTG>CGG p.L213R NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GCAGAGGATCAGCAGGAAGGT 0.498 NA 8 120 0 0 0 0 CASQ1 844 broad.mit.edu 37 1 160165806 160165806 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:160165806G>A uc010pja.1 + 6 1028 c.771G>A c.(769-771)GAG>GAA p.E257E NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 257 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACTTCGTGGAGGAGCACAGGA 0.552 NA 10 73 0 0 0 0 RGS5 8490 broad.mit.edu 37 1 163122400 163122400 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:163122400C>G uc001gcn.2 - 4 571 c.324G>C c.(322-324)AAG>AAC p.K108N RGS5_uc009wvb.2_RNA NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 108 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) TCTCAGCCATCTTGGCAGGGG 0.448 NA 62 282 0 0 0 0 TBX19 9095 broad.mit.edu 37 1 168260618 168260618 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:168260618T>C uc001gfl.2 + 2 475 c.424T>C c.(424-426)TTC>CTC p.F142L TBX19_uc001gfj.3_Missense_Mutation_p.F73L NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 142 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) TCCCATCTCCTTCAGCAAAGT 0.622 NA 34 175 0 0 0 0 NUAK2 81788 broad.mit.edu 37 1 205272810 205272811 + Missense_Mutation DNP TC TC AT TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:205272810_205272811TC>AT uc001hce.2 - 7 1781_1782 c.1654_1655GA>AT c.(1654-1656)GAG>ATG p.E552M NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 552 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GTCAAAGGACTCAGAGGACAGG 0.673 NA 7 50 0 0 0 0 PROX1 5629 broad.mit.edu 37 1 214170581 214170581 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr1:214170581G>A uc001hkh.2 + 2 975 c.703G>A c.(703-705)GAG>AAG p.E235K PROX1_uc001hkg.1_Missense_Mutation_p.E235K NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 235 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GAAGCGAGAGGAGCGCCGACA 0.498 NA 10 48 0 0 0 0 PRKCQ 5588 broad.mit.edu 37 10 6470234 6470234 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:6470234T>C uc001ijj.1 - 18 2131 c.2056A>G c.(2056-2058)ATG>GTG p.M686V PRKCQ_uc009xim.1_Missense_Mutation_p.M623V|PRKCQ_uc001iji.1_Missense_Mutation_p.M719V|PRKCQ_uc009xin.1_Missense_Mutation_p.M650V|PRKCQ_uc010qax.1_Missense_Mutation_p.M561V NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 686 AGC-kinase C-terminal. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 TTCTGGTCCATGCTGTTGATC 0.468 NA 122 93 0 0 0 0 ASCC1 51008 broad.mit.edu 37 10 73892814 73892814 + Splice_Site SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:73892814C>G uc001jst.1 - 9 1063 c.955_splice c.e9+1 p.A319_splice ASCC1_uc001jsr.1_Splice_Site_p.A206_splice|ASCC1_uc001jss.1_Splice_Site_p.A291_splice|ASCC1_uc001jsu.1_Splice_Site_p.A291_splice|ASCC1_uc010qju.1_Splice_Site_p.A312_splice Q8N9N2 ASCC1_HUMAN RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50; regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex RNA binding 0 GGGGGACTTACCATTGGGGTC 0.428 NA 10 81 0 0 0 0 DLG5 9231 broad.mit.edu 37 10 79616567 79616567 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:79616567G>T uc001jzk.2 - 3 527 c.457C>A c.(457-459)CTG>ATG p.L153M DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 153 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ATCAGCCGCAGCTGAATGGAG 0.597 NA 7 58 0.00307968 0.00321747 1 0 SH2D4B 387694 broad.mit.edu 37 10 82330001 82330001 + Silent SNP C C T rs149783849 byFrequency TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:82330001C>T uc001kck.1 + 2 706 c.276C>T c.(274-276)TAC>TAT p.Y92Y SH2D4B_uc001kcl.1_Silent_p.Y43Y NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 91 0 Colorectal(32;0.229) ACAAGCCCTACGAAGAGATCT 0.597 NA 36 93 0 0 0 0 IFIT5 24138 broad.mit.edu 37 10 91177539 91177539 + Missense_Mutation SNP T T G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:91177539T>G uc010qnh.1 + 2 814 c.583T>G c.(583-585)TCT>GCT p.S195A IFIT5_uc010qng.1_Intron NM_012420 NP_036552 Q13325 IFIT5_HUMAN interferon-induced protein with 195 TPR 4. binding 0 TAGAGAAGGGTCTGTAAAGAG 0.448 NA 5 74 0 0 0 0 BTAF1 9044 broad.mit.edu 37 10 93741428 93741428 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:93741428C>T uc001khr.2 + 16 1882 c.1784C>T c.(1783-1785)TCA>TTA p.S595L BTAF1_uc001khs.1_Missense_Mutation_p.S265L|BTAF1_uc001kht.1_Missense_Mutation_p.S33L NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 595 HEAT 4. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) AGTAAGGCTTCAGTTCAGTAT 0.398 NA 34 183 0 0 0 0 DNTT 1791 broad.mit.edu 37 10 98078208 98078208 + Silent SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:98078208C>A uc001kmf.2 + 2 473 c.303C>A c.(301-303)CTC>CTA p.L101L DNTT_uc001kmg.2_Silent_p.L101L NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 101 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) AACCAGAGCTCCTCGATGTCT 0.488 NA 52 110 5.14e-22 6.01e-22 1 0 SORCS1 114815 broad.mit.edu 37 10 108437080 108437080 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:108437080C>T uc001kym.2 - 13 1831 c.1823G>A c.(1822-1824)CGA>CAA p.R608Q SORCS1_uc001kyl.2_Missense_Mutation_p.R608Q|SORCS1_uc009xxs.2_Missense_Mutation_p.R608Q|SORCS1_uc001kyn.1_Missense_Mutation_p.R608Q|SORCS1_uc001kyo.2_Missense_Mutation_p.R608Q NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 608 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCAAAGATGTCGAATTGGGAG 0.463 NA 22 53 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108489807 108489807 + Splice_Site SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:108489807C>T uc001kym.2 - 6 1032 c.1024_splice c.e6+1 p.H342_splice SORCS1_uc001kyl.2_Splice_Site_p.H342_splice|SORCS1_uc009xxs.2_Splice_Site_p.H342_splice|SORCS1_uc001kyn.1_Splice_Site_p.H342_splice|SORCS1_uc001kyo.2_Splice_Site_p.H342_splice NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GATTTACTTACGACCATCCAC 0.383 NA 4 81 0 0 0 0 C10orf137 26098 broad.mit.edu 37 10 127414390 127414390 + Missense_Mutation SNP C C G rs149421957 TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:127414390C>G uc001liq.1 + 6 1068 c.775C>G c.(775-777)CCC>GCC p.P259A C10orf137_uc001lin.2_Missense_Mutation_p.P259A|C10orf137_uc001lio.1_Missense_Mutation_p.P259A|C10orf137_uc001lip.1_Translation_Start_Site NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTCTGAAGATCCCAGTGCTTC 0.408 NA 5 63 0 0 0 0 UROS 7390 broad.mit.edu 37 10 127503624 127503624 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:127503624C>G uc001liw.3 - 3 356 c.223G>C c.(223-225)GAG>CAG p.E75Q UROS_uc001liv.3_5'UTR|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.E75Q|UROS_uc001liy.3_RNA|UROS_uc001liz.2_RNA NM_000375 NP_000366 P10746 HEM4_HUMAN uroporphyrinogen III synthase 75 heme biosynthetic process|uroporphyrinogen III biosynthetic process cytosol|mitochondrion uroporphyrinogen-III synthase activity 0 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) TTGTTTTGCTCCAAACATAAC 0.443 NA 6 59 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1272931 1272931 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:1272931A>G uc009ycr.1 + 52 15913 c.15787A>G c.(15787-15789)ACT>GCT p.T5263A MUC5B_uc001ltb.2_Missense_Mutation_p.T4944A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4941 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACTTCTCTACTCCCTGCTT 0.582 NA 7 23 0 0 0 0 FAR1 84188 broad.mit.edu 37 11 13736146 13736146 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:13736146A>G uc001mld.2 + 9 1201 c.1046A>G c.(1045-1047)TAT>TGT p.Y349C NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 349 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 CATCTTTTATATCATTACTGG 0.438 NA 9 29 0 0 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16816213 16816213 + Nonsense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:16816213G>C uc001mmo.2 - 19 2582 c.2567C>G c.(2566-2568)TCA>TGA p.S856* PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.S856*|PLEKHA7_uc001mmm.2_5'Flank|PLEKHA7_uc010rcv.1_Nonsense_Mutation_p.S430*|PLEKHA7_uc001mmn.2_Nonsense_Mutation_p.S564* NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 856 Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 CTCAGAAGTTGAGAGTGAAGG 0.582 NA 7 54 0 0 0 0 OSBP 5007 broad.mit.edu 37 11 59376155 59376155 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:59376155C>G uc001noc.1 - 3 1104 c.624G>C c.(622-624)CAG>CAC p.Q208H NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 208 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GAAGGGTATTCTGCAGCTCAG 0.468 NA 7 66 0 0 0 0 DDB1 1642 broad.mit.edu 37 11 61080987 61080987 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:61080987C>T uc001nrc.3 - 16 2279 c.2053G>A c.(2053-2055)GAT>AAT p.D685N DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.D685N NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 685 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 GGATAGCCATCTGAATTGAGG 0.433 NA NER 17 124 0 0 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793160 65793160 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:65793160G>A uc001ogt.2 - 1 829 c.691C>T c.(691-693)CAT>TAT p.H231Y NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 231 His-rich.|Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 GCTTCATGATGACGGGACCTG 0.572 NA 40 22 0 0 0 0 PPFIA1 8500 broad.mit.edu 37 11 70202282 70202282 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:70202282C>T uc001opo.2 + 19 2702 c.2504C>T c.(2503-2505)ACG>ATG p.T835M PPFIA1_uc001opn.1_Missense_Mutation_p.T835M|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 835 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GTTTCCGAGACGGATAACTCA 0.403 NA 10 914 0 0 0 0 NADSYN1 55191 broad.mit.edu 37 11 71191849 71191849 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:71191849T>C uc001oqn.2 + 11 1048 c.922T>C c.(922-924)TCG>CCG p.S308P NADSYN1_uc001oqo.2_Missense_Mutation_p.S48P|NADSYN1_uc001oqp.2_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 308 NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTTTGCCCTCTCGTGCCACGA 0.592 NA 7 300 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92577879 92577879 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:92577879C>T uc001pdj.3 + 18 11363 c.11346C>T c.(11344-11346)AAC>AAT p.N3782N FAT3_uc001pdi.3_Silent_p.N222N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3782 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTACAGGAACGTGCGTTGCA 0.512 NA TCGA Ovarian(4;0.039) 4 4 0 0 0 0 PIWIL4 143689 broad.mit.edu 37 11 94349700 94349700 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:94349700T>C uc001pfa.2 + 16 2196 c.1985T>C c.(1984-1986)GTT>GCT p.V662A PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 662 Piwi. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATGACTGATGTTGCAGATTGC 0.343 NA 14 34 0 0 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924371 105924371 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:105924371C>T uc001pja.2 - 4 1685 c.1045G>A c.(1045-1047)GGT>AGT p.G349S KBTBD3_uc001pjb.2_Missense_Mutation_p.G349S|KBTBD3_uc009yxm.2_Missense_Mutation_p.G270S NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 345 Kelch 2. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CCTTTGCAACCACCTGTCAAG 0.423 NA 11 20 0 0 0 0 SC5DL 6309 broad.mit.edu 37 11 121174255 121174255 + Silent SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:121174255C>G uc001pxu.2 + 2 319 c.171C>G c.(169-171)GTC>GTG p.V57V SC5DL_uc001pxs.1_Silent_p.V57V|SC5DL_uc001pxt.2_Silent_p.V57V|SC5DL_uc001pxv.2_Silent_p.V57V NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 57 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ATTATTTTGTCTTCGATCATG 0.289 NA 12 35 0 0 0 0 ROBO4 54538 broad.mit.edu 37 11 124757312 124757312 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr11:124757312G>A uc001qbg.2 - 14 2280 c.2140C>T c.(2140-2142)CTC>TTC p.L714F ROBO4_uc010sas.1_Missense_Mutation_p.L569F|ROBO4_uc001qbh.2_Missense_Mutation_p.L604F|ROBO4_uc001qbi.2_Missense_Mutation_p.L272F NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 714 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GCTGGAGGGAGATGACGAGTA 0.602 NA 17 49 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822440 43822440 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:43822440G>T uc010skx.1 - 25 3652 c.3652C>A c.(3652-3654)CCC>ACC p.P1218T ADAMTS20_uc001rno.1_Missense_Mutation_p.P336T|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P372T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1218 TSP type-1 8. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATACTTACGGGTGACCAATCC 0.328 NA 4 12 0.00909568 0.00937678 1 0 AAAS 8086 broad.mit.edu 37 12 53708119 53708119 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:53708119G>A uc001scr.3 - 7 815 c.652C>T c.(652-654)CTT>TTT p.L218F AAAS_uc001scs.3_Missense_Mutation_p.L185F NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, 218 WD 2. carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore ovary(1) 1 GTCCAGATAAGAATGCAGCTC 0.587 NA 21 119 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 73012775 73012775 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:73012775T>C uc001sxa.2 + 13 2321 c.2291T>C c.(2290-2292)CTA>CCA p.L764P NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 764 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CTTTATCCTCTAGATAAATTA 0.353 NA 9 45 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 73015465 73015465 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:73015465G>T uc001sxa.2 + 15 2504 c.2474G>T c.(2473-2475)GGC>GTC p.G825V NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 825 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TGCAGTTTTGGCAACAAGCAC 0.373 NA 6 24 0.00198382 0.00207723 1 0 TMCC3 57458 broad.mit.edu 37 12 94965347 94965347 + Missense_Mutation SNP G G A rs149413079 byFrequency TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:94965347G>A uc001tdj.2 - 4 1416 c.1298C>T c.(1297-1299)GCG>GTG p.A433V TMCC3_uc001tdi.2_Missense_Mutation_p.A402V NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 433 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 GACGAACTTCGCGATGGTGGA 0.488 NA 21 77 0 0 0 0 C12orf42 374470 broad.mit.edu 37 12 103695998 103695998 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:103695998G>T uc001tjt.2 - 6 1059 c.971C>A c.(970-972)TCC>TAC p.S324Y C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.S324Y|C12orf42_uc001tju.2_Missense_Mutation_p.S229Y NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 324 ovary(1)|central_nervous_system(1) 2 TAACCTCTTGGAGGGGAAATG 0.622 NA 22 54 2.89e-11 3.33e-11 1 0 APPL2 55198 broad.mit.edu 37 12 105591721 105591721 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:105591721G>C uc001tlf.1 - 11 1092 c.874C>G c.(874-876)CTG>GTG p.L292V APPL2_uc010swt.1_Missense_Mutation_p.L249V|APPL2_uc001tlg.1_Missense_Mutation_p.L46V|APPL2_uc010swu.1_Missense_Mutation_p.L298V|APPL2_uc009zuq.2_Missense_Mutation_p.L249V NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 292 Required for RAB5A binding (By similarity).|PH. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 GTGGTGACCAGCCCTGTTTTG 0.542 NA 5 27 0 0 0 0 PRDM4 11108 broad.mit.edu 37 12 108145684 108145684 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:108145684C>T uc001tmp.2 - 5 1071 c.634G>A c.(634-636)GAG>AAG p.E212K PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 212 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 ATCGTAAGCTCCTCTGCCATT 0.512 NA 8 89 0 0 0 0 TMEM119 338773 broad.mit.edu 37 12 108985942 108985942 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:108985942G>A uc001tng.2 - 2 381 c.218C>T c.(217-219)ACC>ATC p.T73I TMEM119_uc001tnf.2_RNA NM_181724 NP_859075 Q4V9L6 TM119_HUMAN transmembrane protein 119 precursor 73 Extracellular (Potential). integral to membrane ovary(1) 1 GCCCCCCAGGGTTATGGGCTG 0.677 NA 14 55 0 0 0 0 ANAPC7 51434 broad.mit.edu 37 12 110834183 110834183 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:110834183T>C uc001tqo.2 - 2 279 c.278A>G c.(277-279)TAT>TGT p.Y93C ANAPC7_uc001tqp.3_Missense_Mutation_p.Y93C NM_016238 NP_057322 Q9UJX3 APC7_HUMAN anaphase-promoting complex subunit 7 isoform a 93 TPR 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding 0 AGCATTCCGATATTCCTTATC 0.383 NA 15 22 0 0 0 0 VPS29 51699 broad.mit.edu 37 12 110929916 110929916 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:110929916G>A uc001tqy.2 - 4 503 c.443C>T c.(442-444)CCA>CTA p.P148L VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.P152L|VPS29_uc001tqz.2_RNA NM_016226 NP_057310 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 isoform 1 148 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity 0 CACAAATGATGGAATAATGTT 0.328 NA 5 29 0 0 0 0 KSR2 283455 broad.mit.edu 37 12 117909103 117909103 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:117909103C>T uc001two.2 - 18 2573 c.2518G>A c.(2518-2520)GCC>ACC p.A840T NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 869 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CATTCCCTGGCGTGGAGTTCA 0.502 NA 17 32 0 0 0 0 C12orf43 64897 broad.mit.edu 37 12 121442193 121442193 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:121442193C>T uc001tzh.1 - 6 575 c.552G>A c.(550-552)GAG>GAA p.E184E C12orf43_uc009zxa.1_Silent_p.E215E|C12orf43_uc010szo.1_Silent_p.E143E|C12orf43_uc010szp.1_Silent_p.E174E|C12orf43_uc001tzi.1_Silent_p.E185E NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 184 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTGCCTCCTTCTCCACTGTTC 0.602 NA 39 138 0 0 0 0 UBC 7316 broad.mit.edu 37 12 125397265 125397265 + Silent SNP T T C rs140629410 TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:125397265T>C uc001ugs.3 - 2 1501 c.1053A>G c.(1051-1053)GGA>GGG p.G351G UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Silent_p.G351G|UBC_uc001ugt.2_Silent_p.G351G|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.G199G NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 351 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CCAGCTGTTTTCCGGCAAAGA 0.527 NA 31 180 0 0 0 0 UBC 7316 broad.mit.edu 37 12 125397268 125397268 + Silent SNP G G A rs145681180 byFrequency TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr12:125397268G>A uc001ugs.3 - 2 1498 c.1050C>T c.(1048-1050)GCC>GCT p.A350A UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Silent_p.A350A|UBC_uc001ugt.2_Silent_p.A350A|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.A198A NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 350 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GCTGTTTTCCGGCAAAGATCA 0.522 NA 31 173 0 0 0 0 FAM155A 728215 broad.mit.edu 37 13 108518304 108518304 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr13:108518304G>A uc001vql.2 - 1 1157 c.641C>T c.(640-642)CCG>CTG p.P214L NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 214 integral to membrane binding skin(1) 1 GTTCCAGAGCGGAGTGGGATG 0.577 NA 16 106 0 0 0 0 RHOJ 57381 broad.mit.edu 37 14 63747788 63747788 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr14:63747788G>A uc001xgb.1 + 3 780 c.337G>A c.(337-339)GAG>AAG p.E113K NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 113 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) CAATGTCCAGGAGGAATGGGT 0.557 NA 25 67 0 0 0 0 RHOJ 57381 broad.mit.edu 37 14 63747813 63747813 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr14:63747813A>G uc001xgb.1 + 3 805 c.362A>G c.(361-363)GAC>GGC p.D121G NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 121 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) GAGCTCAAGGACTGCATGCCT 0.537 NA 24 55 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64532170 64532170 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr14:64532170A>G uc001xgm.2 + 51 10463 c.10233A>G c.(10231-10233)ATA>ATG p.I3411M SYNE2_uc001xgl.2_Missense_Mutation_p.I3411M|SYNE2_uc010apw.1_Missense_Mutation_p.I117M NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3411 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAAATCTTATATCAACCAAAG 0.353 NA 24 22 0 0 0 0 ACOT4 122970 broad.mit.edu 37 14 74061758 74061758 + Silent SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr14:74061758A>G uc001xoo.2 + 3 920 c.666A>G c.(664-666)AAA>AAG p.K222K NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 222 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) TCCAGGTAAAAGGCCCAGGCA 0.328 NA 3 181 0 0 0 0 FAM82A2 55177 broad.mit.edu 37 15 41029852 41029852 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:41029852C>T uc001zmo.1 - 10 1342 c.1198G>A c.(1198-1200)GAA>AAA p.E400K FAM82A2_uc001zmp.1_Missense_Mutation_p.E400K|FAM82A2_uc001zmq.1_Missense_Mutation_p.E400K NM_018145 NP_060615 Q96TC7 RMD3_HUMAN family with sequence similarity 82, member A2 400 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding 0 AGGGCATCTTCCACAGTGGCA 0.478 NA 5 76 0 0 0 0 CASC4 113201 broad.mit.edu 37 15 44671915 44671915 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:44671915C>G uc001zto.1 + 7 1129 c.830C>G c.(829-831)TCT>TGT p.S277C CASC4_uc001ztp.2_Missense_Mutation_p.S277C|CASC4_uc001ztq.2_Missense_Mutation_p.S277C NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 isoform a 277 Lumenal (Potential). integral to membrane ovary(1) 1 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) ATTTCAGTTTCTCAACATGAA 0.333 NA 67 76 0 0 0 0 PLDN 26258 broad.mit.edu 37 15 45884445 45884445 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:45884445G>C uc001zvq.2 + 2 420 c.195G>C c.(193-195)CAG>CAC p.Q65H PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA NM_012388 NP_036520 Q9UL45 PLDN_HUMAN pallidin 65 Potential. post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis BLOC-1 complex|endomembrane system|membrane identical protein binding|syntaxin-13 binding skin(1) 1 Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027) all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07) CAGATCTGCAGAGATCAAAAC 0.398 NA 8 29 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54305645 54305645 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:54305645G>A uc002ack.2 + 1 545 c.545G>A c.(544-546)CGA>CAA p.R182Q NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 182 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGAGCTTTACGAAAACTGAGA 0.458 NA 48 82 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62165518 62165518 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:62165518C>G uc002agz.2 - 78 10579 c.10505G>C c.(10504-10506)AGA>ACA p.R3502T VPS13C_uc002aha.2_Missense_Mutation_p.R3459T|VPS13C_uc002ahb.1_Missense_Mutation_p.R3502T|VPS13C_uc002ahc.1_Missense_Mutation_p.R3459T NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3502 protein localization ovary(2) 2 CTCTTCTCTTCTTTTTTGCTG 0.423 NA 46 154 0 0 0 0 DENND4A 10260 broad.mit.edu 37 15 65968902 65968902 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:65968902T>C uc002aph.2 - 23 4496 c.4118A>G c.(4117-4119)GAT>GGT p.D1373G DENND4A_uc002api.2_Missense_Mutation_p.D1416G NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GACATCTTCATCTGTTAAAGA 0.423 NA 7 31 0 0 0 0 STARD5 80765 broad.mit.edu 37 15 81614833 81614833 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:81614833G>A uc002bgm.2 - 3 282 c.198C>T c.(196-198)GAC>GAT p.D66D STARD5_uc002bgn.2_5'UTR NM_181900 NP_871629 Q9NSY2 STAR5_HUMAN StAR-related lipid transfer protein 5 66 START. C21-steroid hormone biosynthetic process|lipid transport cytosol lipid binding ovary(1) 1 GCTTCACACAGTCCCACACCT 0.473 NA 19 75 0 0 0 0 NAT15 79903 broad.mit.edu 37 16 3533528 3533528 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr16:3533528G>C uc002cvh.3 + 6 749 c.503G>C c.(502-504)CGA>CCA p.R168P NAT15_uc010uxb.1_Missense_Mutation_p.R175P|NAT15_uc010btk.1_Missense_Mutation_p.R103P|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Missense_Mutation_p.R168P|NAT15_uc010uxc.1_Missense_Mutation_p.R168P|NAT15_uc010uxd.1_Intron|NAT15_uc010uxe.1_Intron|NAT15_uc002cvg.1_Missense_Mutation_p.R168P NM_001083601 NP_001077070 Q9H7X0 NAT15_HUMAN N-acetyltransferase 15 168 N-acetyltransferase. N-acetyltransferase activity 0 TACTCCATTCGAGGGGTCCTC 0.478 NA 5 70 0 0 0 0 ACSM5 54988 broad.mit.edu 37 16 20442541 20442541 + Splice_Site SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr16:20442541G>A uc002dhe.2 + 10 1354 c.1207_splice c.e10-1 p.I403_splice NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TTCCTTACCAGATTGTGGATG 0.552 NA 23 102 0 0 0 0 PALB2 79728 broad.mit.edu 37 16 23641719 23641719 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr16:23641719C>T uc002dlx.1 - 5 1956 c.1756G>A c.(1756-1758)GAT>AAT p.D586N NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 586 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) GTGAAAGCATCATCATCCAAG 0.368 NA F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 7 24 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49764716 49764716 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr16:49764716G>C uc002efs.2 - 4 541 c.243C>G c.(241-243)GAC>GAG p.D81E NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 81 C2H2-type 1; degenerate. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGTCCGTCAGGTCTGCCAGAG 0.517 NA 5 105 0 0 0 0 ALOX12 239 broad.mit.edu 37 17 6900305 6900305 + Nonsense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:6900305G>A uc002gdx.3 + 2 349 c.296G>A c.(295-297)TGG>TAG p.W99* NM_000697 NP_000688 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 99 PLAT. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding central_nervous_system(1) 1 TGCTACCGCTGGGTGCAGGGC 0.706 NA 5 3 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 32 25 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10302117 10302117 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:10302117C>T uc002gmm.2 - 29 4044 c.3949G>A c.(3949-3951)GAG>AAG p.E1317K uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1317 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TGTTTCAGCTCTTCAATCTGC 0.388 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 6 55 0 0 0 0 C17orf48 56985 broad.mit.edu 37 17 10608466 10608466 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:10608466A>G uc002gmt.2 + 2 298 c.223A>G c.(223-225)ATC>GTC p.I75V C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.I75V NM_020233 NP_064618 Q3LIE5 ADPRM_HUMAN ADP-ribose/CDP-alcohol pyrophosphatase 75 ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding 0 GCTTGGAGATATCATCGATGG 0.418 NA 20 95 0 0 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612243 16612243 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:16612243T>C uc002gqk.1 + 5 948 c.872T>C c.(871-873)TTA>TCA p.L291S CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 291 0 AAAAACCAATTAAAACTCGTC 0.363 NA 39 60 0 0 0 0 SUPT6H 6830 broad.mit.edu 37 17 27017211 27017211 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:27017211A>G uc002hby.2 + 26 3544 c.3454A>G c.(3454-3456)ATG>GTG p.M1152V SUPT6H_uc010crt.2_Missense_Mutation_p.M1152V|SUPT6H_uc002hbz.1_Missense_Mutation_p.M84V NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1152 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) GATCTTCAATATGTTAACCAA 0.458 NA 26 57 0 0 0 0 ACACA 31 broad.mit.edu 37 17 35564685 35564685 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:35564685T>C uc002hnm.2 - 31 3817 c.3626A>G c.(3625-3627)TAT>TGT p.Y1209C ACACA_uc002hnk.2_Missense_Mutation_p.Y1131C|ACACA_uc002hnl.2_Missense_Mutation_p.Y1151C|ACACA_uc002hnn.2_Missense_Mutation_p.Y1209C|ACACA_uc002hno.2_Missense_Mutation_p.Y1246C|ACACA_uc010cuy.2_5'Flank NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1209 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGTCATGCCATAGTGGTTGAG 0.473 NA 21 84 0 0 0 0 KRT25 147183 broad.mit.edu 37 17 38906826 38906826 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:38906826C>G uc002hve.2 - 6 1042 c.981G>C c.(979-981)TTG>TTC p.L327F NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 327 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) CGGTCTCTGTCAAGGAGCACT 0.522 NA 18 216 0 0 0 0 JUP 3728 broad.mit.edu 37 17 39912040 39912040 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:39912040C>T uc002hxq.2 - 14 2471 c.2194G>A c.(2194-2196)GGC>AGC p.G732S JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.G732S|JUP_uc002hxs.2_Missense_Mutation_p.G732S NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 732 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GGCCTGAGGCCGTCGCTGTAG 0.632 NA 12 51 0 0 0 0 BRCA1 672 broad.mit.edu 37 17 41244991 41244991 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:41244991C>T uc002icq.2 - 10 2789 c.2557G>A c.(2557-2559)GAT>AAT p.D853N BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D782N|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.D806N|BRCA1_uc002ict.2_Missense_Mutation_p.D853N|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.D853N|BRCA1_uc002ide.1_Missense_Mutation_p.D684N|BRCA1_uc010cyy.1_Missense_Mutation_p.D853N|BRCA1_uc010whs.1_Missense_Mutation_p.D853N|BRCA1_uc010cyz.2_Missense_Mutation_p.D806N|BRCA1_uc010cza.2_Missense_Mutation_p.D827N|BRCA1_uc010wht.1_Missense_Mutation_p.D557N NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 853 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TACTGAGCATCAAGTTCACTT 0.393 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 50 133 0 0 0 0 LUC7L3 51747 broad.mit.edu 37 17 48821155 48821155 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:48821155T>C uc002isr.2 + 6 632 c.515T>C c.(514-516)CTA>CCA p.L172P LUC7L3_uc002isp.1_Missense_Mutation_p.L96P|LUC7L3_uc010wmw.1_Missense_Mutation_p.L96P|LUC7L3_uc002isq.2_Missense_Mutation_p.L172P|LUC7L3_uc002iss.2_Missense_Mutation_p.L172P NM_006107 NP_006098 O95232 LC7L3_HUMAN LUC7-like 3 172 Potential. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding 0 AGAGAACTGCTAAGGTCCACA 0.363 NA 9 48 0 0 0 0 SMURF2 64750 broad.mit.edu 37 17 62579622 62579622 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:62579622G>C uc002jep.1 - 7 914 c.526C>G c.(526-528)CTA>GTA p.L176V SMURF2_uc002jeq.1_Translation_Start_Site|SMURF2_uc002jer.1_Translation_Start_Site NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 176 WW 1. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) ATATGGTTTAGATACTGGATT 0.413 NA 4 85 0 0 0 0 CD300E 342510 broad.mit.edu 37 17 72619723 72619723 + Nonsense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:72619723G>C uc002jlb.1 - 1 79 c.38C>G c.(37-39)TCA>TGA p.S13* NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 13 integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CCACTCACCTGAGAGGCAGAG 0.547 NA 4 152 0 0 0 0 FHOD3 80206 broad.mit.edu 37 18 33935606 33935606 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr18:33935606C>T uc002kzt.1 + 2 367 c.270C>T c.(268-270)GCC>GCT p.A90A FHOD3_uc002kzr.1_Silent_p.A90A|FHOD3_uc002kzs.1_Silent_p.A90A NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 90 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AGGATGACGCCGGGTAAGAGC 0.542 NA 15 13 0 0 0 0 SMAD2 4087 broad.mit.edu 37 18 45371798 45371798 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr18:45371798A>G uc002lcy.2 - 10 1441 c.1193T>C c.(1192-1194)GTT>GCT p.V398A SMAD2_uc002lcz.2_Missense_Mutation_p.V398A|SMAD2_uc010xdc.1_Missense_Mutation_p.V368A|SMAD2_uc010xdd.1_Missense_Mutation_p.V368A NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 398 MH2. V->R: Increased binding to PPM1A. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 ACCCTGATTAACAGACTGAGC 0.383 NA 49 42 0 0 0 0 AP3D1 8943 broad.mit.edu 37 19 2121203 2121203 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:2121203G>A uc002luz.2 - 13 1432 c.1209C>T c.(1207-1209)ATC>ATT p.I403I AP3D1_uc002luy.2_Silent_p.I312I|AP3D1_uc002lva.2_Silent_p.I403I NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 403 HEAT 8. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTGGCTGCAGATGTCAATGA 0.587 NA 16 63 0 0 0 0 DOT1L 84444 broad.mit.edu 37 19 2210666 2210666 + Missense_Mutation SNP A A T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:2210666A>T uc002lvb.3 + 14 1199 c.1163A>T c.(1162-1164)AAG>ATG p.K388M DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 388 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCGTGAAGAAGCCGTCTCCC 0.607 NA 22 131 0 0 0 0 DIRAS1 148252 broad.mit.edu 37 19 2717766 2717766 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:2717766G>A uc002lwf.3 - 2 197 c.39C>T c.(37-39)TTC>TTT p.F13F NM_145173 NP_660156 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 13 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCCGCCCCGAACACCACCA 0.547 NA 9 30 0 0 0 0 SLC44A2 57153 broad.mit.edu 37 19 10745462 10745462 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:10745462G>A uc002mpf.2 + 11 993 c.854G>A c.(853-855)CGA>CAA p.R285Q SLC44A2_uc002mpe.3_Missense_Mutation_p.R283Q|SLC44A2_uc002mpg.1_Missense_Mutation_p.R5Q|SLC44A2_uc002mph.2_5'Flank NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 285 Extracellular (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GAGTACTCCCGACTGCGTGGT 0.557 NA 4 97 0 0 0 0 EMR3 84658 broad.mit.edu 37 19 14736338 14736338 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:14736338G>A uc002mzi.3 - 15 2034 c.1886C>T c.(1885-1887)TCC>TTC p.S629F EMR3_uc010dzp.2_Missense_Mutation_p.S577F|EMR3_uc010xnv.1_Missense_Mutation_p.S503F NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 629 Cytoplasmic (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 CATCTTGCTGGAAAGTGTGTA 0.393 NA 17 95 0 0 0 0 ZNF429 353088 broad.mit.edu 37 19 21720747 21720747 + Missense_Mutation SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:21720747C>A uc002nqd.1 + 4 2029 c.1892C>A c.(1891-1893)ACC>AAC p.T631N ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 631 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AAAGCTTTTACCCGGTCTTCA 0.254 NA 4 40 0.00198382 0.00207723 1 0 ZNF429 353088 broad.mit.edu 37 19 21720754 21720754 + Silent SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:21720754T>C uc002nqd.1 + 4 2036 c.1899T>C c.(1897-1899)TCT>TCC p.S633S ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 633 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TTACCCGGTCTTCAAGACTTA 0.234 NA 4 36 0 0 0 0 C19orf40 91442 broad.mit.edu 37 19 33464412 33464412 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:33464412G>A uc002nud.3 + 3 305 c.187G>A c.(187-189)GAA>AAA p.E63K CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank NM_152266 NP_689479 Q9BTP7 FAP24_HUMAN Fanconi anemia-associated protein, 24 kDa 63 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding 0 Esophageal squamous(110;0.137) TTATGTCACCGAAGCTGATTT 0.328 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks 19 106 0 0 0 0 ATP4A 495 broad.mit.edu 37 19 36051332 36051332 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:36051332G>A uc002oal.1 - 6 749 c.720C>T c.(718-720)CCC>CCT p.P240P ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 240 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GCGTGCACTCGGGTGAGCGGG 0.657 NA 15 81 0 0 0 0 NUP62 23636 broad.mit.edu 37 19 50412137 50412137 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:50412137C>T uc002pqx.2 - 2 1032 c.928G>A c.(928-930)GTG>ATG p.V310M IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.V310M|NUP62_uc002pqz.2_Missense_Mutation_p.V310M|NUP62_uc002pra.2_Missense_Mutation_p.V310M|NUP62_uc002prb.2_Missense_Mutation_p.V310M|NUP62_uc002prc.2_Intron NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 310 Ala-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GGAGCGGTCACGGCAGCTGCT 0.517 NA 9 49 0 0 0 0 ZNF577 84765 broad.mit.edu 37 19 52376780 52376780 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:52376780C>G uc010yde.1 - 7 854 c.463G>C c.(463-465)GGG>CGG p.G155R ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.G96R|ZNF577_uc002pxv.2_Missense_Mutation_p.G148R|ZNF577_uc002pxw.2_Missense_Mutation_p.G89R NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGTGGTTTCCCTCCTGCACAA 0.448 NA 7 120 0 0 0 0 MBOAT7 79143 broad.mit.edu 37 19 54677830 54677830 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:54677830G>T uc002qdq.2 - 9 1593 c.1327C>A c.(1327-1329)CTG>ATG p.L443M TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.L127M|MBOAT7_uc010yem.1_Missense_Mutation_p.L425M|MBOAT7_uc002qdr.2_Missense_Mutation_p.L443M|MBOAT7_uc002qds.2_Missense_Mutation_p.L370M|MBOAT7_uc010yen.1_Missense_Mutation_p.L370M NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 443 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCAGCCCCAGCCCCAGGGCT 0.652 NA 8 33 5.18e-06 5.76e-06 1 0 PEG3 5178 broad.mit.edu 37 19 57327434 57327434 + Missense_Mutation SNP A A C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:57327434A>C uc002qnu.2 - 7 2727 c.2376T>G c.(2374-2376)AGT>AGG p.S792R ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S763R|PEG3_uc002qnv.2_Missense_Mutation_p.S792R|PEG3_uc002qnw.2_Missense_Mutation_p.S668R|PEG3_uc002qnx.2_Missense_Mutation_p.S666R|PEG3_uc010etr.2_Missense_Mutation_p.S792R NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 792 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCCCTGCTACACTGTGACTTT 0.453 NA 76 88 0 0 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028615 59028615 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:59028615C>T uc002qtd.2 - 2 718 c.426G>A c.(424-426)CCG>CCA p.P142P ZBTB45_uc002qte.2_Silent_p.P142P|ZBTB45_uc002qtf.2_Silent_p.P142P NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 142 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GTGCGAGTGGCGGGGGCACAG 0.706 NA OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 13 0 0 0 0 UBXN2A 165324 broad.mit.edu 37 2 24194165 24194165 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:24194165G>C uc010exy.2 + 4 529 c.61G>C c.(61-63)GAT>CAT p.D21H UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D21H|UBXN2A_uc010ykj.1_Missense_Mutation_p.D21H NM_181713 NP_859064 P68543 UBX2A_HUMAN UBX domain containing 4 21 0 AACAGGATCTGATAATCAACC 0.313 NA 8 102 0 0 0 0 FOSL2 2355 broad.mit.edu 37 2 28626989 28626989 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:28626989A>G uc002rma.2 + 2 927 c.118A>G c.(118-120)ATG>GTG p.M40V FOSL2_uc010ymi.1_Missense_Mutation_p.M1V NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 40 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) CCGGGTAGATATGCCTGGCTC 0.463 NA 28 83 0 0 0 0 RTN4 57142 broad.mit.edu 37 2 55252582 55252582 + Missense_Mutation SNP A A C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:55252582A>C uc002rye.2 - 3 2951 c.2653T>G c.(2653-2655)TTA>GTA p.L885V RTN4_uc002ryd.2_Missense_Mutation_p.L679V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 885 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 TCCCTGGCTAATTTAGAAAAT 0.388 NA 34 19 0 0 0 0 MCM6 4175 broad.mit.edu 37 2 136614422 136614422 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:136614422G>T uc002tuw.2 - 11 1578 c.1502C>A c.(1501-1503)GCA>GAA p.A501E NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 501 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GTTTGCTGCTGCCAAAATGGA 0.338 NA 16 31 0.000566183 0.000607833 1 0 EPC2 26122 broad.mit.edu 37 2 149501231 149501231 + Missense_Mutation SNP T T G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:149501231T>G uc010zbt.1 + 3 381 c.354T>G c.(352-354)GAT>GAG p.D118E NM_015630 NP_056445 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 118 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1)|breast(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0516) ATGATATGGATTCAGAAGATG 0.294 NA 9 14 0 0 0 0 KIF5C 3800 broad.mit.edu 37 2 149868127 149868127 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:149868127G>A uc010zbu.1 + 25 3179 c.2811G>A c.(2809-2811)ACG>ACA p.T937T KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.T219T NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 937 Globular. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) CATCTCCAACGGCCGTCCATG 0.498 NA 18 45 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166848067 166848067 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:166848067G>A uc010zcz.1 - 26 5703 c.5685C>T c.(5683-5685)ATC>ATT p.I1895I NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1906 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AAGTAGTAGTGATTGGCTGAT 0.443 NA 11 118 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168101809 168101809 + Nonsense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:168101809G>T uc002udx.2 + 8 3925 c.3907G>T c.(3907-3909)GAA>TAA p.E1303* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E1128*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E1081*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1128 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AATTACTGAAGAAGTAATACA 0.383 NA 17 65 1.57e-10 1.81e-10 1 0 XIRP2 129446 broad.mit.edu 37 2 168105100 168105100 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:168105100G>A uc002udx.2 + 8 7216 c.7198G>A c.(7198-7200)GAA>AAA p.E2400K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2225K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2178K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2225 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTCCCAAAAAGAAGCCTCGAA 0.473 NA 4 102 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170065990 170065990 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:170065990G>A uc002ues.2 - 38 6655 c.6442C>T c.(6442-6444)CGG>TGG p.R2148W NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2148 LDL-receptor class B 20.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GCAATACCCCGGACTCCATTT 0.398 NA 19 124 0 0 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794907 176794907 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:176794907G>A uc002ukc.1 - 13 1268 c.1075C>T c.(1075-1077)CTT>TTT p.L359F KIAA1715_uc010zer.1_Missense_Mutation_p.L390F|KIAA1715_uc010fqw.1_Missense_Mutation_p.L425F|KIAA1715_uc010zes.1_Missense_Mutation_p.L361F|KIAA1715_uc002ukd.1_Missense_Mutation_p.L236F|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 359 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TTATCATCAAGAACATCGTGT 0.343 NA 4 167 0 0 0 0 OSBPL6 114880 broad.mit.edu 37 2 179213991 179213991 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:179213991C>T uc002ulx.2 + 12 1406 c.1028C>T c.(1027-1029)TCC>TTC p.S343F OSBPL6_uc002ulw.2_Missense_Mutation_p.S312F|OSBPL6_uc002uly.2_Missense_Mutation_p.S368F|OSBPL6_uc010zfe.1_Missense_Mutation_p.S312F|OSBPL6_uc002ulz.2_Missense_Mutation_p.S343F|OSBPL6_uc002uma.2_Missense_Mutation_p.S347F NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 343 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CGCTTGCATTCCTCCAACCCC 0.438 NA 17 271 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179403855 179403855 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:179403855C>T uc010zfg.1 - 302 91327 c.91103G>A c.(91102-91104)CGC>CAC p.R30368H uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24063H|TTN_uc010zfi.1_Missense_Mutation_p.R23996H|TTN_uc010zfj.1_Missense_Mutation_p.R23871H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31295 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTCTCTTTGCGTTCGATGTA 0.498 NA 16 114 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179544334 179544334 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:179544334G>A uc010zfg.1 - 138 30148 c.29924C>T c.(29923-29925)CCG>CTG p.P9975L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6636L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10902 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCTTTTGCCGGTGGAGCTTC 0.418 NA 8 31 0 0 0 0 NCKAP1 10787 broad.mit.edu 37 2 183850902 183850902 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:183850902T>C uc002upc.2 - 10 1403 c.1001A>G c.(1000-1002)CAT>CGT p.H334R NCKAP1_uc002upb.2_Missense_Mutation_p.H340R NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 334 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TACTCACGCATGTGACACGGC 0.318 NA 6 12 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212488717 212488717 + Missense_Mutation SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:212488717C>A uc002veg.1 - 18 2230 c.2132G>T c.(2131-2133)CGT>CTT p.R711L ERBB4_uc002veh.1_Missense_Mutation_p.R711L|ERBB4_uc010zji.1_Missense_Mutation_p.R701L|ERBB4_uc010zjj.1_Missense_Mutation_p.R701L|ERBB4_uc010fut.1_Missense_Mutation_p.R711L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 711 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTTCAAAATACGAAGTTGAGC 0.418 NA TSP Lung(8;0.080) 4 57 0.00909568 0.00937678 1 0 ABCA12 26154 broad.mit.edu 37 2 215854110 215854110 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:215854110G>T uc002vew.2 - 26 3992 c.3772C>A c.(3772-3774)CTA>ATA p.L1258I ABCA12_uc002vev.2_Missense_Mutation_p.L940I|ABCA12_uc010zjn.1_Missense_Mutation_p.L185I NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1258 Helical; (Potential). cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAGTCAGCTAGGATTAGACAG 0.423 NA 9 68 1.13e-05 1.25e-05 1 0 TRIP12 9320 broad.mit.edu 37 2 230693917 230693917 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:230693917C>T uc002vpw.1 - 7 1407 c.1298G>A c.(1297-1299)AGT>AAT p.S433N TRIP12_uc002vpx.1_Missense_Mutation_p.S481N|TRIP12_uc002vpy.1_Missense_Mutation_p.S136N|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.S439N NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 433 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ACTAGCTCCACTTCCAATTGT 0.393 NA 7 36 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9561038 9561038 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr20:9561038C>G uc002wnl.2 - 5 1289 c.744G>C c.(742-744)GAG>GAC p.E248D PAK7_uc002wnk.2_Missense_Mutation_p.E248D|PAK7_uc002wnj.2_Missense_Mutation_p.E248D|PAK7_uc010gby.1_Missense_Mutation_p.E248D NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 248 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) ACGCCAGGCTCTCCTTGGAGC 0.537 NA 7 68 0 0 0 0 RBL1 5933 broad.mit.edu 37 20 35717460 35717460 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr20:35717460C>T uc002xgi.2 - 2 301 c.222G>A c.(220-222)ACG>ACA p.T74T RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.T74T|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 74 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) CCTTTCCAACCGTGGGAATAA 0.383 NA 12 76 0 0 0 0 LBP 3929 broad.mit.edu 37 20 36992694 36992694 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr20:36992694G>T uc002xic.1 + 7 753 c.718G>T c.(718-720)GCC>TCC p.A240S NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 240 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) TCGGGCAACAGCCCAGATGCT 0.562 NA 6 44 0.00198382 0.00207723 1 0 B4GALT5 9334 broad.mit.edu 37 20 48263615 48263615 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr20:48263615T>C uc002xuu.3 - 3 445 c.251A>G c.(250-252)GAT>GGT p.D84G NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 84 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) AAGAGGATAATCTAGGGAGGT 0.413 NA 14 49 0 0 0 0 PRPF6 24148 broad.mit.edu 37 20 62626765 62626765 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr20:62626765G>T uc002yho.2 + 6 869 c.701G>T c.(700-702)GGC>GTC p.G234V PRPF6_uc002yhp.2_Missense_Mutation_p.G234V NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 234 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) ATGACACCTGGCACAGGTGAG 0.527 NA 11 51 5.51e-06 6.11e-06 1 0 ZNF295 49854 broad.mit.edu 37 21 43413679 43413679 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr21:43413679G>A uc002zab.3 - 3 740 c.526C>T c.(526-528)CCC>TCC p.P176S ZNF295_uc002yzz.3_Missense_Mutation_p.P176S|ZNF295_uc002yzy.3_Missense_Mutation_p.P176S|ZNF295_uc002zaa.3_Missense_Mutation_p.P176S|ZNF295_uc010gov.1_Missense_Mutation_p.P176S|ZNF295_uc002zac.2_Missense_Mutation_p.P176S NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 176 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 CTAGGAGAGGGCCGGGAAGTA 0.418 NA 41 132 0 0 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047691 46047691 + Silent SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr21:46047691C>G uc002zfp.3 + 1 652 c.603C>G c.(601-603)GTC>GTG p.V201V C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 201 20.|25 X 5 AA repeats of C-C-X(3). keratin filament 0 GTGTGCCTGTCTGCTCTGGGG 0.622 NA 72 296 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47783764 47783764 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr21:47783764G>C uc002zji.3 + 14 2631 c.2524G>C c.(2524-2526)GAG>CAG p.E842Q PCNT_uc002zjj.2_Missense_Mutation_p.E724Q NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 842 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GTGTGGGCGGGAGCCGCCCAC 0.662 NA 8 129 0 0 0 0 MICAL3 57553 broad.mit.edu 37 22 18301236 18301236 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr22:18301236C>T uc002zng.3 - 26 4544 c.4191G>A c.(4189-4191)GAG>GAA p.E1397E MICAL3_uc011agl.1_Silent_p.E1313E|MICAL3_uc010gre.1_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1397 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) GGGACAACGGCTCGCCTTCCG 0.647 NA 34 94 0 0 0 0 CABIN1 23523 broad.mit.edu 37 22 24463127 24463127 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr22:24463127C>T uc002zzi.1 + 16 2354 c.2227C>T c.(2227-2229)CTG>TTG p.L743L CABIN1_uc002zzj.1_Silent_p.L693L|CABIN1_uc002zzl.1_Silent_p.L743L NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 743 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GCTGCTTCTTCTGCAGGTGTG 0.532 NA 5 26 0 0 0 0 TPST2 8459 broad.mit.edu 37 22 26928676 26928676 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr22:26928676C>T uc003acv.2 - 4 1245 c.1077G>A c.(1075-1077)CTG>CTA p.L359L TPST2_uc003acw.2_Silent_p.L359L|TPST2_uc003acx.2_Silent_p.L359L NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 359 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 AATATCCTTTCAGATTGGCTG 0.264 NA 35 233 0 0 0 0 SMC1B 27127 broad.mit.edu 37 22 45745620 45745620 + Missense_Mutation SNP T T A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr22:45745620T>A uc003bgc.2 - 23 3536 c.3484A>T c.(3484-3486)AAC>TAC p.N1162Y SMC1B_uc003bgd.2_Intron NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 1162 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTGCCTATGTTAGTATTGTCT 0.333 NA 17 26 0 0 0 0 TRANK1 9881 broad.mit.edu 37 3 36873988 36873988 + Silent SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:36873988G>C uc003cgj.2 - 12 5606 c.5304C>G c.(5302-5304)CTC>CTG p.L1768L NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2318 Potential. DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CTAGAGCTTTGAGTTCCCTGT 0.512 NA 7 75 0 0 0 0 ULK4 54986 broad.mit.edu 37 3 41960008 41960008 + Missense_Mutation SNP C C A rs55840267 TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:41960008C>A uc003ckv.3 - 7 869 c.668G>T c.(667-669)AGT>ATT p.S223I ULK4_uc003ckw.2_Missense_Mutation_p.S223I|ULK4_uc003ckx.1_Missense_Mutation_p.S223I NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 223 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) TTCTGAAATACTTTCTGAGAA 0.274 NA 3 64 0.00909568 0.00937678 1 0 NKTR 4820 broad.mit.edu 37 3 42680530 42680530 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:42680530G>A uc003clo.2 + 13 3481 c.3334G>A c.(3334-3336)GAA>AAA p.E1112K NKTR_uc003clm.1_Missense_Mutation_p.E859K|NKTR_uc003clp.2_Missense_Mutation_p.E859K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E1002K|NKTR_uc003clr.1_Missense_Mutation_p.E859K|NKTR_uc003cls.2_Missense_Mutation_p.E812K NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1112 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) TCAGCACGTTGAAGAAAGTGT 0.408 NA 10 37 0 0 0 0 PDE12 201626 broad.mit.edu 37 3 57542704 57542704 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:57542704G>A uc003diw.3 + 1 724 c.598G>A c.(598-600)GAA>AAA p.E200K PDE12_uc003div.2_Missense_Mutation_p.E200K NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 200 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CTGGTATAAGGAAGCCAAGCC 0.607 NA 24 51 0 0 0 0 FAM55C 91775 broad.mit.edu 37 3 101520115 101520115 + Missense_Mutation SNP G G A rs139375291 TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:101520115G>A uc003dvn.2 + 5 767 c.130G>A c.(130-132)GAC>AAC p.D44N FAM55C_uc010hpn.2_Missense_Mutation_p.D44N NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 44 extracellular region ovary(1)|pancreas(1)|skin(1) 3 CACTTTCATCGACAGCAGTGG 0.458 NA 27 161 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124207131 124207131 + Silent SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:124207131C>T uc003ehg.2 + 29 4486 c.4359C>T c.(4357-4359)GCC>GCT p.A1453A KALRN_uc010hrv.1_Silent_p.A1444A|KALRN_uc003ehf.1_Silent_p.A1453A|KALRN_uc011bjy.1_Silent_p.A1444A|KALRN_uc003ehh.1_Silent_p.A799A NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1453 DH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CAAAGAAAGCCAATGATGCCA 0.532 NA 4 91 0 0 0 0 ACAD9 28976 broad.mit.edu 37 3 128625055 128625055 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:128625055G>A uc003ela.3 + 12 1443 c.1241G>A c.(1240-1242)CGC>CAC p.R414H ACAD9_uc010hsw.1_Missense_Mutation_p.R291H|ACAD9_uc011bks.1_Missense_Mutation_p.R291H|ACAD9_uc003elb.2_Missense_Mutation_p.R291H|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.R66H NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 414 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 CCGTACGAGCGCATACTGCGT 0.632 NA 4 115 0 0 0 0 ZBTB38 253461 broad.mit.edu 37 3 141161426 141161426 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:141161426A>G uc003etw.2 + 8 1178 c.196A>G c.(196-198)ACA>GCA p.T66A ZBTB38_uc010hun.2_Missense_Mutation_p.T63A|ZBTB38_uc010huo.2_Missense_Mutation_p.T66A|ZBTB38_uc003ety.2_Missense_Mutation_p.T66A|ZBTB38_uc010hup.2_Missense_Mutation_p.T67A NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 66 BTB. positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TTGGAGCCATACAATCTGTAT 0.388 NA 16 81 0 0 0 0 DVL3 1857 broad.mit.edu 37 3 183885832 183885832 + Missense_Mutation SNP A A G rs61758454 TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr3:183885832A>G uc003fms.2 + 13 1617 c.1477A>G c.(1477-1479)ATC>GTC p.I493V DVL3_uc011bqw.1_Missense_Mutation_p.I476V|DVL3_uc003fmt.2_Missense_Mutation_p.I164V|DVL3_uc003fmu.2_Missense_Mutation_p.I325V NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 493 DEP. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GTGCTACTACATCTTCGGTGA 0.592 NA 16 102 0 0 0 0 GC 2638 broad.mit.edu 37 4 72635073 72635073 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr4:72635073G>A uc003hge.2 - 2 256 c.103C>T c.(103-105)CTG>TTG p.L35L GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Silent_p.L35L|GC_uc010iif.2_Silent_p.L54L NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 35 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TCCTTTCCCAGATGGGAGAAT 0.408 NA 3 27 0 0 0 0 ALB 213 broad.mit.edu 37 4 74274375 74274375 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr4:74274375C>T uc003hgs.3 + 4 408 c.335C>T c.(334-336)GCT>GTT p.A112V ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Missense_Mutation_p.A112V|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_Missense_Mutation_p.A2V|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'Flank NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 112 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GGTGAAATGGCTGACTGCTGT 0.443 NA 6 27 0 0 0 0 STBD1 8987 broad.mit.edu 37 4 77231134 77231134 + Missense_Mutation SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr4:77231134C>A uc003hka.2 + 2 1304 c.1058C>A c.(1057-1059)GCA>GAA p.A353E STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Missense_Mutation_p.A204E NM_003943 NP_003934 O95210 STBD1_HUMAN starch binding domain 1 353 CBM20.|Cytoplasmic (Potential). carbohydrate metabolic process|muscle contraction integral to plasma membrane|membrane fraction carbohydrate binding|catalytic activity|protein binding ovary(1) 1 Lung(101;0.196) GTGGTTCACGCATGGTGGGGG 0.453 NA 23 115 4.88e-14 5.65e-14 1 0 HERC3 8916 broad.mit.edu 37 4 89627912 89627912 + Missense_Mutation SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr4:89627912C>A uc003hrw.1 + 26 3120 c.2954C>A c.(2953-2955)ACA>AAA p.T985K HERC3_uc011cdn.1_Missense_Mutation_p.T867K|HERC3_uc011cdo.1_Missense_Mutation_p.T429K NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 985 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GTGTTCCTGACAGGCAGCGAT 0.552 NA OREG0016265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 0.00024832 0.000267201 1 0 CCDC110 256309 broad.mit.edu 37 4 186380147 186380147 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr4:186380147G>C uc003ixu.3 - 6 1670 c.1594C>G c.(1594-1596)CTT>GTT p.L532V CCDC110_uc003ixv.3_Missense_Mutation_p.L495V|CCDC110_uc011ckt.1_Missense_Mutation_p.L532V NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 532 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TCTAAAGAAAGTTGTATATTT 0.264 NA 13 31 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13901525 13901525 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:13901525C>T uc003jfd.2 - 14 1930 c.1888G>A c.(1888-1890)GCC>ACC p.A630T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 630 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGCTGGCGGGCCCACAAAATC 0.502 NA Kartagener_syndrome 7 30 0 0 0 0 SEMA6A 57556 broad.mit.edu 37 5 115782551 115782551 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:115782551G>T uc010jck.2 - 19 3560 c.2851C>A c.(2851-2853)CAG>AAG p.Q951K SEMA6A_uc003krx.3_Missense_Mutation_p.Q968K|SEMA6A_uc011cwe.1_Missense_Mutation_p.Q330K|SEMA6A_uc003krv.3_Missense_Mutation_p.Q378K|SEMA6A_uc003krw.3_Missense_Mutation_p.Q428K|SEMA6A_uc010jcj.2_Missense_Mutation_p.Q495K NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 951 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CCAAAGCTCTGGTTTCTGGAG 0.607 NA 10 38 1.77e-08 1.99e-08 1 0 FTMT 94033 broad.mit.edu 37 5 121188162 121188162 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:121188162G>C uc003kss.2 + 1 513 c.504G>C c.(502-504)AAG>AAC p.K168N NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 168 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) TCTTGGAAAAGAACGTGAACC 0.547 NA 17 91 0 0 0 0 HSPA4 3308 broad.mit.edu 37 5 132440096 132440096 + Missense_Mutation SNP G G T rs144576995 TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:132440096G>T uc003kyj.2 + 19 2772 c.2491G>T c.(2491-2493)GAC>TAC p.D831Y NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 831 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCGGATTCAGACAAGAAGCT 0.423 NA 14 64 6.72e-11 7.74e-11 1 0 CD14 929 broad.mit.edu 37 5 140012362 140012362 + Missense_Mutation SNP A A T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:140012362A>T uc003lgi.1 - 2 561 c.207T>A c.(205-207)TTT>TTA p.F69L CD14_uc003lgj.1_Missense_Mutation_p.F69L NM_000591 NP_000582 P08571 CD14_HUMAN CD14 antigen precursor 69 LRR 1. apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCTTTAGAAACGGCTCTA 0.632 NA 4 38 0 0 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181796 140181796 + Silent SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:140181796C>G uc003lhf.2 + 1 1014 c.1014C>G c.(1012-1014)CTC>CTG p.L338L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.L338L NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 338 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTCTACTCGAAATTGTGG 0.398 NA 3 71 0 0 0 0 RNF14 9604 broad.mit.edu 37 5 141363007 141363007 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:141363007G>T uc003lly.2 + 6 1165 c.1126G>T c.(1126-1128)GAT>TAT p.D376Y RNF14_uc003llz.2_Missense_Mutation_p.D376Y|RNF14_uc003lma.2_Missense_Mutation_p.D376Y|RNF14_uc003lmb.2_Missense_Mutation_p.D250Y|RNF14_uc003lmc.2_Missense_Mutation_p.D376Y|RNF14_uc011dbg.1_Missense_Mutation_p.D200Y|RNF14_uc011dbh.1_Missense_Mutation_p.D73Y|RNF14_uc003lmd.2_Missense_Mutation_p.D376Y NM_183399 NP_899646 Q9UBS8 RNF14_HUMAN ring finger protein 14 isoform 1 376 Potential.|Interaction with androgen receptor. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding 0 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) AAGACTTTTGGATCAAAGGTA 0.378 NA 3 22 0.004672 0.00487014 1 0 PPARGC1B 133522 broad.mit.edu 37 5 149215963 149215963 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:149215963G>A uc003lrc.2 + 8 1987 c.1945G>A c.(1945-1947)GGG>AGG p.G649R PPARGC1B_uc003lrb.1_Missense_Mutation_p.G649R|PPARGC1B_uc003lrd.2_Missense_Mutation_p.G610R|PPARGC1B_uc003lrf.2_Missense_Mutation_p.G628R|PPARGC1B_uc003lre.1_Missense_Mutation_p.G628R NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 649 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGCCACCCCAGGGGCTGCCCA 0.602 NA 16 78 0 0 0 0 C5orf54 63920 broad.mit.edu 37 5 159821116 159821116 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:159821116T>C uc003lye.1 - 2 1846 c.1382A>G c.(1381-1383)TAT>TGT p.Y461C C5orf54_uc003lyf.1_Missense_Mutation_p.Y461C NM_022090 NP_071373 Q8IZ13 CE054_HUMAN transposon-derived Buster3 transposase-like 461 pancreas(1) 1 aatggaaaaatatccatggaa 0 NA 8 62 0 0 0 0 CCNG1 900 broad.mit.edu 37 5 162866483 162866483 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:162866483C>T uc003lzb.2 + 3 355 c.221C>T c.(220-222)TCT>TTT p.S74F CCNG1_uc011dek.1_Intron|CCNG1_uc011del.1_Intron|CCNG1_uc003lzc.2_RNA NM_199246 NP_954854 P51959 CCNG1_HUMAN cyclin G1 74 cell division|mitosis|regulation of cyclin-dependent protein kinase activity nucleus lung(1)|kidney(1) 2 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164) GAGACATTTTCTCTAGCTGTG 0.373 NA 24 24 0 0 0 0 FOXI1 2299 broad.mit.edu 37 5 169535531 169535531 + Silent SNP T T A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr5:169535531T>A uc003mai.3 + 2 1098 c.1053T>A c.(1051-1053)TCT>TCA p.S351S FOXI1_uc003maj.3_Silent_p.S256S NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 351 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGGAGGATCTGTGCTCAGCC 0.582 NA Pendred_syndrome 10 62 0 0 0 0 TRIM10 10107 broad.mit.edu 37 6 30122152 30122152 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:30122152C>T uc003npo.3 - 7 1116 c.1040G>A c.(1039-1041)CGT>CAT p.R347H TRIM10_uc003npn.2_Missense_Mutation_p.R347H NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 347 B30.2/SPRY. cytoplasm zinc ion binding 0 CCGGTCAAAACGTTGGGGGTT 0.602 NA 15 48 0 0 0 0 MTCH1 23787 broad.mit.edu 37 6 36936732 36936732 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:36936732A>G uc003ond.1 - 12 1117 c.1117T>C c.(1117-1119)TCC>CCC p.S373P MTCH1_uc003onc.1_Missense_Mutation_p.S356P|MTCH1_uc010jwo.1_RNA NM_014341 NP_055156 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier homolog 1 373 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding 0 AGCAGGCTGGAGCCTCGGAAG 0.562 NA 3 63 0 0 0 0 DST 667 broad.mit.edu 37 6 56417926 56417926 + Missense_Mutation SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:56417926C>A uc003pdf.2 - 55 9335 c.9307G>T c.(9307-9309)GTA>TTA p.V3103L DST_uc003pcz.3_Missense_Mutation_p.V2925L|DST_uc011dxj.1_Missense_Mutation_p.V2954L|DST_uc011dxk.1_Missense_Mutation_p.V2965L|DST_uc003pcy.3_Missense_Mutation_p.V2599L NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5011 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGTAATTCTACCATACCAAAG 0.403 NA 86 204 4.25e-50 4.99e-50 1 0 PRIM2 5558 broad.mit.edu 37 6 57472427 57472427 + Nonsense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:57472427G>T uc003pdx.2 + 13 1303 c.1216G>T c.(1216-1218)GGA>TGA p.G406* NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 406 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) GATCTCTCCTGGAGGGATAAG 0.448 NA 5 47 2.01e-06 2.25e-06 1 0 TBX18 9096 broad.mit.edu 37 6 85472390 85472390 + Silent SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:85472390C>G uc003pkl.1 - 2 369 c.369G>C c.(367-369)GCG>GCC p.A123A TBX18_uc010kbq.1_5'UTR NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 123 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CCAGGGAGCGCGCCGGAGACC 0.697 NA 7 35 0 0 0 0 RRAGD 58528 broad.mit.edu 37 6 90097057 90097057 + Missense_Mutation SNP A A T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:90097057A>T uc003pnd.3 - 2 684 c.401T>A c.(400-402)ATC>AAC p.I134N RRAGD_uc010kcc.2_Intron NM_021244 NP_067067 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 134 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity ovary(2)|central_nervous_system(1) 3 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) TCCCCGGAAGATCATCTCATA 0.498 NA 16 124 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146351225 146351225 + Missense_Mutation SNP A A T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:146351225A>T uc010khw.1 + 2 1042 c.572A>T c.(571-573)GAC>GTC p.D191V GRM1_uc010khu.1_Missense_Mutation_p.D191V|GRM1_uc010khv.1_Missense_Mutation_p.D191V|GRM1_uc003qll.2_Missense_Mutation_p.D191V|GRM1_uc011edz.1_Missense_Mutation_p.D191V|GRM1_uc011eea.1_Missense_Mutation_p.D191V NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 191 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACAAGCATCGACCTGAGTGAC 0.507 NA 49 65 0 0 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151054974 151054974 + Missense_Mutation SNP A A C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:151054974A>C uc003qny.1 + 3 469 c.157A>C c.(157-159)AAA>CAA p.K53Q PLEKHG1_uc011eel.1_Missense_Mutation_p.K93Q|PLEKHG1_uc011eem.1_Missense_Mutation_p.K112Q|PLEKHG1_uc003qnz.2_Missense_Mutation_p.K53Q NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 53 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AGGGGCCATAAAACTGGAGCT 0.572 NA 18 55 0 0 0 0 RMND1 55005 broad.mit.edu 37 6 151766876 151766876 + Missense_Mutation SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr6:151766876C>A uc003qoi.2 - 2 251 c.71G>T c.(70-72)AGA>ATA p.R24I RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.R24I|RMND1_uc011eer.1_Missense_Mutation_p.R24I NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog 24 0 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) ATGACCGATTCTTCGGCACTG 0.403 NA 14 34 4.37e-10 4.98e-10 1 0 NUDT1 4521 broad.mit.edu 37 7 2290629 2290629 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr7:2290629C>T uc003slp.1 + 5 635 c.533C>T c.(532-534)ACG>ATG p.T178M NUDT1_uc003slq.1_Missense_Mutation_p.T155M|NUDT1_uc003slr.1_Missense_Mutation_p.T155M|NUDT1_uc003sls.1_Missense_Mutation_p.T178M|NUDT1_uc003slt.1_Missense_Mutation_p.T155M|NUDT1_uc003slu.1_Missense_Mutation_p.T178M|NUDT1_uc003slv.1_Missense_Mutation_p.T155M NM_198949 NP_945187 P36639 8ODP_HUMAN nudix-type motif 1 isoform p22 196 DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding 0 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) GAGGTGGACACGGTCTAGCGG 0.602 NA Direct_reversal_of_damage|Modulation_of_nucleotide_pools 18 140 0 0 0 0 C7orf10 79783 broad.mit.edu 37 7 40535977 40535977 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr7:40535977G>A uc003thn.1 + 12 1126 c.1081G>A c.(1081-1083)GAA>AAA p.E361K C7orf10_uc003thm.1_Missense_Mutation_p.E331K|C7orf10_uc003tho.1_Missense_Mutation_p.E313K NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 368 transferase activity ovary(2) 2 TGTATTTGCAGAACCTCAGGT 0.403 NA 4 27 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55218998 55218998 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr7:55218998G>A uc003tqk.2 + 5 817 c.571G>A c.(571-573)GAT>AAT p.D191N EGFR_uc003tqh.2_Missense_Mutation_p.D191N|EGFR_uc003tqi.2_Missense_Mutation_p.D191N|EGFR_uc003tqj.2_Missense_Mutation_p.D191N|EGFR_uc010kzg.1_Missense_Mutation_p.D146N|EGFR_uc011kco.1_Missense_Mutation_p.D138N|EGFR_uc003tql.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 191 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCAAAAGTGTGATCCAAGCTG 0.498 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 59 724 0 0 0 0 AASS 10157 broad.mit.edu 37 7 121738533 121738533 + Silent SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr7:121738533G>A uc003vka.2 - 14 1722 c.1626C>T c.(1624-1626)TTC>TTT p.F542F AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.F542F|AASS_uc011knw.1_Silent_p.F30F NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 542 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) TTGCCACCAAGAAGCCCAGCT 0.338 NA 13 48 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138524925 138524926 + Missense_Mutation DNP GC GC TT TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr7:138524925_138524926GC>TT uc011kql.1 - 19 5599_5600 c.5550_5551GC>AA c.(5548-5553)GGGCCA>GGAACA p.P1851T KIAA1549_uc011kqi.1_Missense_Mutation_p.P635T|KIAA1549_uc003vuk.3_Missense_Mutation_p.P1801T|KIAA1549_uc011kqj.1_Missense_Mutation_p.P1851T|KIAA1549_uc011kqk.1_Missense_Mutation_p.P635T NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1851 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GGCCAGCCTGGCCCCCCATACT 0.545 NA O BRAF pilocytic astrocytoma 3 3 0 0 0 0 CLCN1 1180 broad.mit.edu 37 7 143020479 143020479 + Missense_Mutation SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr7:143020479G>C uc003wcr.1 + 6 861 c.774G>C c.(772-774)GAG>GAC p.E258D CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_Intron|CLCN1_uc010loy.1_Intron NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 258 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) GGGTATATGAGGTAAGGTTGA 0.602 NA 16 63 0 0 0 0 ZNF746 155061 broad.mit.edu 37 7 149191396 149191396 + Missense_Mutation SNP C C A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr7:149191396C>A uc003wfw.2 - 2 494 c.223G>T c.(223-225)GGG>TGG p.G75W ZNF746_uc010lpi.2_Missense_Mutation_p.G75W NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 75 Potential. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TGCAGCAGCCCGTACTCCTGC 0.652 NA 4 166 0.00909568 0.00937678 1 0 EFHA2 286097 broad.mit.edu 37 8 16963031 16963031 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:16963031A>G uc003wxd.2 + 11 1237 c.1195A>G c.(1195-1197)ACA>GCA p.T399A NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 399 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) TTTACGATATACAAATGTGGA 0.303 NA 4 19 0 0 0 0 ADAM2 2515 broad.mit.edu 37 8 39613286 39613286 + Missense_Mutation SNP C C G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:39613286C>G uc003xnj.2 - 16 1833 c.1758G>C c.(1756-1758)AAG>AAC p.K586N ADAM2_uc003xnk.2_Missense_Mutation_p.K567N|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Missense_Mutation_p.K430N NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 586 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTATCCACATCTTTTGGCTGT 0.338 NA 25 10 0 0 0 0 POTEA 340441 broad.mit.edu 37 8 43147924 43147924 + Missense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:43147924G>T uc003xpz.1 + 1 340 c.297G>T c.(295-297)AAG>AAT p.K99N POTEA_uc003xqa.1_Missense_Mutation_p.K99N NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 99 ANK 1. ovary(1) 1 ACAAGAAGAAGAGGTAACCGG 0.627 NA 9 23 0.000673444 0.000718033 1 0 ZFHX4 79776 broad.mit.edu 37 8 77763747 77763747 + Silent SNP G G C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:77763747G>C uc003yav.2 + 10 4842 c.4455G>C c.(4453-4455)ACG>ACC p.T1485T ZFHX4_uc003yau.1_Silent_p.T1530T|ZFHX4_uc003yaw.1_Silent_p.T1485T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1485 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCAATTTTACGATGGAAAAAT 0.403 NA HNSCC(33;0.089) 4 45 0 0 0 0 MMP16 4325 broad.mit.edu 37 8 89128802 89128802 + Missense_Mutation SNP T T G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:89128802T>G uc003yeb.3 - 6 1299 c.1017A>C c.(1015-1017)AAA>AAC p.K339N MMP16_uc003yec.2_Missense_Mutation_p.K339N NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 339 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 AGATGTTGGGTTTGGCTCCGG 0.483 NA 44 56 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113256689 113256689 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:113256689C>T uc003ynu.2 - 65 10495 c.10336G>A c.(10336-10338)GGT>AGT p.G3446S CSMD3_uc003yns.2_Missense_Mutation_p.G2648S|CSMD3_uc003ynt.2_Missense_Mutation_p.G3406S|CSMD3_uc011lhx.1_Missense_Mutation_p.G3277S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3446 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCTGTTCCACCTGCTAAGAAG 0.428 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 59 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113317029 113317029 + Silent SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:113317029A>G uc003ynu.2 - 52 8346 c.8187T>C c.(8185-8187)TAT>TAC p.Y2729Y CSMD3_uc003yns.2_Silent_p.Y1931Y|CSMD3_uc003ynt.2_Silent_p.Y2689Y|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2729 Extracellular (Potential).|Sushi 16. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTAGTCCATGATAACCAGGGT 0.408 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 47 0 0 0 0 TRMT12 55039 broad.mit.edu 37 8 125463385 125463385 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:125463385G>A uc003yra.3 + 1 338 c.217G>A c.(217-219)GAG>AAG p.E73K NM_017956 NP_060426 Q53H54 TYW2_HUMAN homolog of yeast tRNA methyltransferase 12 73 tRNA processing methyltransferase activity upper_aerodigestive_tract(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GCACCTGCAGGAGCTGAGGAA 0.592 NA 8 44 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21970971 21970971 + Nonsense_Mutation SNP G G T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr9:21970971G>T uc003zpk.2 - 2 599 c.387C>A c.(385-387)TAC>TAA p.Y129* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 129 ANK 4. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.Y129*(5)|p.R128fs*12(3)|p.Y129C(2)|p.R128fs*9(2)|p.Y129H(1)|p.A118fs*10(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCGCGCGCAGGTACCGTGCGA 0.682 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 20 12 1.56e-14 1.81e-14 1 0 REPS2 9185 broad.mit.edu 37 X 17047658 17047658 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chrX:17047658A>G uc004cxv.1 + 5 854 c.683A>G c.(682-684)GAA>GGA p.E228G REPS2_uc004cxw.1_Missense_Mutation_p.E227G|REPS2_uc011miw.1_Missense_Mutation_p.E87G NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 228 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) GCACCTTATGAAGCTAGGCAG 0.483 NA 3 57 0 0 0 0 CDKL5 6792 broad.mit.edu 37 X 18646534 18646534 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chrX:18646534C>T uc004cym.2 + 18 2793 c.2540C>T c.(2539-2541)TCG>TTG p.S847L CDKL5_uc004cyn.2_Missense_Mutation_p.S847L NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 847 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) CATCTCTCTTCGGCCTCAAAT 0.483 NA 63 93 0 0 0 0 GABRQ 55879 broad.mit.edu 37 X 151818953 151818953 + Nonsense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chrX:151818953C>T uc004ffp.1 + 7 831 c.811C>T c.(811-813)CAA>TAA p.Q271* NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 271 Helical; (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTACCTTGTGCAAGTCTACTG 0.488 NA 209 67 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55955582 55955594 + Frame_Shift_Del DEL TTTTCATCCAGTA TTTTCATCCAGTA - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr10:55955582_55955594delTTTTCATCCAGTA uc001jju.1 - 11 1549_1561 c.1154_1166delTACTGGATGAAAA c.(1153-1167)ATACTGGATGAAAACfs p.I385fs PCDH15_uc010qhq.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qhr.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhs.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qht.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhu.1_Frame_Shift_Del_p.I385fs|PCDH15_uc001jjv.1_Frame_Shift_Del_p.I363fs|PCDH15_uc010qhv.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhw.1_Frame_Shift_Del_p.I348fs|PCDH15_uc010qhx.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhy.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qhz.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qia.1_Frame_Shift_Del_p.I363fs|PCDH15_uc010qib.1_Frame_Shift_Del_p.I363fs|PCDH15_uc001jjw.2_Frame_Shift_Del_p.I385fs NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 385_389 Cadherin 3.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACTTTGATTGTTTTCATCCAGTATTTCAATGTG 0.39 NA HNSCC(58;0.16) 7 47 --- --- --- --- NA NA NA NA OCA2 4948 broad.mit.edu 37 15 28200305 28200305 + Frame_Shift_Del DEL T T - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:28200305delT uc001zbh.3 - 17 1951 c.1841delA c.(1840-1842)AAGfs p.K614fs OCA2_uc010ayv.2_Frame_Shift_Del_p.K590fs NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 614 Cytoplasmic (Potential). K -> N (in OCA2).|K -> E (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTGGGTACCTTTTTTTGGAG 0.443 NA Oculocutaneous_Albinism 8 177 --- --- --- --- NA NA NA NA MAP1A 4130 broad.mit.edu 37 15 43815715 43815716 + Frame_Shift_Ins INS - - A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:43815715_43815716insA uc001zrt.2 + 4 2511_2512 c.2044_2045insA c.(2044-2046)CAAfs p.Q682fs NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 682 Q -> P (in Ref. 1; AAB41132/AAB41133). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGGTTTTTACCAAAAACATATG 0.515 NA 7 26 --- --- --- --- NA NA NA NA IQGAP1 8826 broad.mit.edu 37 15 90934059 90934060 + Frame_Shift_Ins INS - - A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr15:90934059_90934060insA uc002bpl.1 + 2 210_211 c.109_110insA c.(109-111)CAGfs p.Q37fs NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 37 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAGGAGACGTCAGAACGTGGCT 0.426 NA 18 65 --- --- --- --- NA NA NA NA PLCG2 5336 broad.mit.edu 37 16 81957192 81957192 + Frame_Shift_Del DEL G G - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr16:81957192delG uc002fgt.2 + 22 2562 c.2410delG c.(2410-2412)GGGfs p.G804fs NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 804 SH3. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CAAGGAGCCCGGGGGCTGGTA 0.582 NA 14 30 --- --- --- --- NA NA NA NA HEXIM1 10614 broad.mit.edu 37 17 43226740 43226743 + Frame_Shift_Del DEL GGAG GGAG - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr17:43226740_43226743delGGAG uc002iig.2 + 1 2057_2060 c.183_186delGGAG c.(181-186)CCGGAGfs p.P61fs NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 61_62 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 GTCCGGGGCCGGAGGGGGAAGGGA 0.676 NA OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 49 --- --- --- --- NA NA NA NA ZNF320 162967 broad.mit.edu 37 19 53384531 53384539 + In_Frame_Del DEL GCGAAGGTC GCGAAGGTC - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr19:53384531_53384539delGCGAAGGTC uc002qag.2 - 4 1031_1039 c.840_848delGACCTTCGC c.(838-849)AAGACCTTCGCT>AAT p.280_283KTFA>N ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_In_Frame_Del_p.226_229KTFA>N|ZNF320_uc002qai.2_In_Frame_Del_p.280_283KTFA>N NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 280_283 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TGAATTTCGAGCGAAGGTCTTGCCACACT 0.416 NA 17 89 --- --- --- --- NA NA NA NA SCRN3 79634 broad.mit.edu 37 2 175292478 175292479 + Frame_Shift_Del DEL TG TG - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr2:175292478_175292479delTG uc002uiq.2 + 8 1218_1219 c.1130_1131delTG c.(1129-1131)CTGfs p.L377fs SCRN3_uc010zen.1_Frame_Shift_Del_p.L370fs|SCRN3_uc010zeo.1_Frame_Shift_Del_p.L175fs|SCRN3_uc002uis.2_Frame_Shift_Del_p.L119fs NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 377 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) ATGAGGAAACTGGAGAAAGAAC 0.297 NA 11 111 --- --- --- --- NA NA NA NA SRRD 402055 broad.mit.edu 37 22 26886165 26886168 + Splice_Site DEL GTAA GTAA - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr22:26886165_26886168delGTAA uc010gve.2 + 5 771 c.764_splice c.e5+1 p.R255_splice SRRD_uc003acp.3_Splice_Site_p.R248_splice|uc003acu.1_5'Flank NM_001013694 NP_001013716 Q9UH36 SRR1L_HUMAN SRR1 domain containing rhythmic process 0 TTGAGGAGAGGTAAGTCTGAGAAT 0.461 NA 7 37 --- --- --- --- NA NA NA NA CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr4:1388441_1388442insCG uc003gdf.2 + 1 3102_3103 c.142_143insCG c.(142-144)ATGfs p.M48fs NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 1 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 NA 7 634 --- --- --- --- NA NA NA NA CC2D2A 57545 broad.mit.edu 37 4 15589466 15589468 + In_Frame_Del DEL GAA GAA - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr4:15589466_15589468delGAA uc010idv.2 + 33 4338_4340 c.4093_4095delGAA c.(4093-4095)GAAdel p.E1367del CC2D2A_uc003gnx.2_In_Frame_Del_p.E1259del|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 1367 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 GGCAGGGGATGAAGAAGAACATG 0.399 NA 14 49 --- --- --- --- NA NA NA NA INTS12 57117 broad.mit.edu 37 4 106604428 106604428 + Frame_Shift_Del DEL G G - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr4:106604428delG uc003hxw.2 - 8 1109 c.851delC c.(850-852)TCGfs p.S284fs INTS12_uc010ilr.2_Frame_Shift_Del_p.S284fs NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 284 Ser-rich. snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) AGTTACTGACGAGGAAACGCT 0.378 NA 8 30 --- --- --- --- NA NA NA NA STC1 6781 broad.mit.edu 37 8 23702493 23702493 + Frame_Shift_Del DEL G G - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 182b2a39-4881-402a-a907-b51aa114584a 1f4ec99a-77d9-437c-b7d0-d67a65109078 g.chr8:23702493delG uc003xdw.1 - 4 818 c.534delC c.(532-534)ATCfs p.I178fs NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 178 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GGCTGTCTCTGATTGTGCTGA 0.502 NA 50 41 --- --- --- --- NA NA NA NA